Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals. Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data. We investigated electroencephalographic findings, focusing on the cortical distribution of interictal abnormalities and their changes with age. Among the 36 SYNGAP1-DEE cases 18 presented variants in the SYNGAP1 gene that had never been previously reported. The mean age of diagnosis was 8 years and 8 months, ranging from 2 to 17 years, with 55.9% being male. All subjects had global neurodevelopmental/language delay and behavioral abnormalities; 83.3% had moderate to profound intellectual disability (ID), 91.7% displayed autistic traits, 73% experienced sleep disorders and 86.1% suffered from epileptic seizures, mainly eyelid myoclonia with absences (55.3%). A total of 63 VEEGs were revised, observing a worsening of certain EEG findings with increasing age. A disorganized background was observed in all age ranges, yet this was more common among older cases. The main IEDs were bilateral synchronous and asynchronous posterior discharges, accounting for ≥50% in all age ranges. Generalized alterations with maximum amplitude in the anterior region showed as the second most frequent IED (≥15% in all age ranges) and were also more common with increasing age. Finally, diffuse fast activity was much more prevalent in cases with 6 years or older. To the best of our knowledge, this is the first study to analyze EEG features across different age groups, revealing an increase in interictal abnormalities over infancy and adolescence. Our findings suggest that SYNGAP1 haploinsufficiency has complex effects in human brain development, some of which might unravel at different developmental stages. Furthermore, they highlight the potential of baseline EEG to identify candidate biomarkers and the importance of natural history studies to develop specialized therapies and clinical trials.

Respuesta biológica en las pacientes con cáncer de mama tratadas con radioterapia intraoperatoria / Biological response in breast cancer patients using intraoperative radiotherapy

Introducción: el tratamiento conservador de la mama junto con la radioterapia es de elección en las pacientes con cáncer de mama precoz. Gracias a un mayor conocimiento de la radiobiología tumoral, la tendencia actual consiste en utilizar técnicas de irradiación parcial acelerada, entre las que destaca la radioterapia intraoperatoria (RIO). Métodos: estudio prospectivo multicéntrico dividido en 2 grupos comparativos con casos consecutivos de las pacientes a que han recibido una cirugía conservadora por cáncer de mama asociada o no a RIO. Se valora la relación de esta terapia con los valores de las proteínas involucradas en la respuesta biológica (IL6, IL8, CXCL10, IL1β y TNF- α) en muestras de suero preoperatorio y a las 24 h desde la cirugía, y de drenaje quirúrgico a las 6 y 24 h desde la cirugía. Resultados: se ha objetivado en las pacientes tratadas con RIO una disminución significativa de IL6 e IL8, así como un aumento de CXCL10 favorable para la lucha contra la progresión del tumor (p valor < 0,05). Las alteraciones del sistema inmunológico se manifiestan tanto en suero como en débito del drenaje quirúrgico a las 6 y 24 h desde la cirugía. Conclusiones: la RIO modifica la respuesta biológica en las pacientes con cáncer de mama. A pesar de que se deben desarrollar más líneas de investigación, la comprensión de los mecanismos de desarrollo del tumor, abre una nueva etapa en el desarrollo de tratamientos perioperatorios dirigidos a dianas concretas que compensen las consecuencias dañinas de la cirugía. (AU)

Introduction: Breast conserving surgery with radiotherapy is the treatment of choice in patients with early breast cancer. Due to a better understanding of tumour radiobiology, the current trend is to use accelerated partial irradiation techniques, among which intraoperative radiotherapy (RIO) stands out. Methods: Prospective multicentre study divided into two comparative groups with consecutive cases of patients who have undergone conservative surgery for breast cancer associated or not with RIO. The relation of this therapy with the values of proteins involved in the biological response (IL6, IL8, CXCL10, IL1β y TNF- α) is assessed in serum samples preoperative and 24 hours after surgery, and surgical drainage samples at 6 and 24 hours after surgery. Results: A significant decrease in IL6 and IL8, as well as an increase in CXCL10 favourable for the fight against tumour progression (p-value < 0.05) was observed in patients treated with RIO. Immune system alterations are manifested in both serum and surgical drainage debit at 6 and 24 hours after surgery. Conclusions: RIO modifies the biological response in breast cancer patients. Although more lines of research need to be developed, the understanding of the mechanisms of tumour development opens a new stage in the development of perioperative treatments directed at specific targets that compensate for the harmful consequences of surgery. (AU)

Association between the clinical and demographic characteristics of patients undergoing cataract surgery and their prevalence of conjunctival bacteria.

PURPOSE: To identify characteristics of patients undergoing cataract surgery associated with pathogenic and antibiotic-resistant conjunctival bacteria. SETTING: Spanish tertiary hospital. DESIGN: Retrospective cross-sectional study. METHODS: Records of consecutive patients undergoing cataract surgery between July 2005 and September 2014, contained data on patient characteristics and conjunctival bacteria systematically identified with preoperative tests and anesthetic evaluation. A multivariate logistic regression associated 12 bacterial groups with every category of 17 characteristics. Odds ratio (OR), 95% CIs expressed colonization risk. RESULTS: In 14883 patients, categories associated with pathogenic bacteria were age older than 79 years with nonfermentative gram-negative bacilli (NFGNB) (OR 1.74, 1.12-2.71), enterococci (OR 1.90, 1.36-2.65), Enterobacteriaceae (OR 2.17, 1.65-2.87), and Staphylococcus aureus (OR 1.37, 1.16-1.62); obesity with S aureus (OR 1.52, 1.30-1.78), enterococci (OR 1.99, 1.47-2.68), and Enterobacteriaceae (OR 2.17, 1.70-2.77); dacryocystorhinostomy history with S aureus (OR 1.90, 1.48-2.44), Haemophilus spp. (OR 2.06, 1.37-3.11), Streptococcus pneumoniae (OR 3.14, 2.14-4.62), NFGNB (OR 2.23, 1.28-3.88), and enterococci (OR 1.80, 1.16-1.81); diabetes with S aureus (OR 1.27, 1.13-1.44), enterococci (OR 1.49, 1.19-1.87), and Enterobacteriaceae (OR 1.27, 1.04-1.54); smoking habit with Enterobacteriaceae (OR 2.11, 1.56-2.86); autumn with NFGNB (OR 2.0, 1.35-3.0); hot weather with S aureus (OR 1.23, 1.03-1.47); and lung, renal, and some heart insufficiencies with S aureus. Other staphylococci, highly antibiotic-resistant, were associated with old age, obesity, and hot weather. CONCLUSIONS: Old age, obesity, diabetes, dacryocystorhinostomy history, smoking habit, and autumn and summer seasons increased the prevalence of enterococci, staphylococci, Enterobacteriaceae, and/or NFGNB. Obesity and humid-warm weather are key for choosing a cataract surgery prophylaxis.

[Caregiver burden in patients with moderate-severe cerebral palsy. The influence of nutritional status]. / Carga del cuidador del paciente con parálisis cerebral moderada-grave: ¿influye el estado nutricional?

INTRODUCTION: Patients with moderate-severe cerebral palsy require the support of their caregivers to carry out the activities of daily living (ADLs). OBJECTIVES: To describe the comorbidities, need for care in children with cerebral palsy and to analyse the influence of the degree of motor involvement, nutritional status and other neurological disorders. METHODS: Cross-sectional and observational study. Patients with cerebral palsy degrees III-IV-V according to the Gross Motor Function Classification System (GMFCS) have been studied. A record of comorbidities has been made and body composition has been studied using anthropometry and bioimpedance. In addition, a caregiver burden survey on ADLs has been carried out (10 items on the different actions: hygiene, clothing, transfers, sleeping and feeding). Which variables have the greatest influence on the perception of difficulty in performing ADLs have been studied. RESULTS: A total of 69 patients (50.7% women, mean age 10.46 ± 0.4 years) were analysed, with GMFCS grades: grade III 36.2% (N=25), grade IV 29.0% (N=20), grade V 34.8% (N=24). A relationship was found between the caregiver burden score and GMFCS grade (P=0.003) and intellectual disability (P<0.001). However, regardless of the degree of GMFCS and intellectual disability, there is greater difficulty in performing ADLs in relation to lower values in weight (Z-score) (P=0.028), fat mass (kg) (P=0.035), fat mass (%) (P=0.094), body mass index (Z-score) (P=0.086). CONCLUSIONS: In addition to the degree of clinical impairment, nutritional status is a factor that influences the caregiver's difficulty in performing the ADLs in cerebral palsy patients on which we can act to improve this problem.

HiperCKemia persistente asintomática en edad pediátrica. Diagnóstico de miopatía central core sin biopsia muscular / Asymptomatic hyperCKemia in children. Central core disease with non-diagnostic muscle biopsy

INTRODUCCIÓN: la elevación persistente de creatinfosfoquinasa (CK) puede constituir la primera manifestación de una patología muscular subyacente. Su correcto abordaje permite un adecuado tratamiento precoz, asesoramiento familiar e información sobre su pronóstico y sus complicaciones. CASO CLÍNICO: niño de siete años, asintomático, con elevación de CK como hallazgo casual en una analítica de rutina, persistiendo en controles seriados. Exploración física normal. Tras un estudio metabólico completo normal, se solicita estudio genético dirigido a descartar distrofinopatías u otras miopatías. Se observa una mutación en el gen RYR1, c.9912C>A; p. (Cys3304*), variante probablemente patogénica compatible con miopatía congénita de cores centrales (#MIM11700). Ante un diagnóstico genético en paciente asintomático, se evita la realización de otras técnicas invasivas. CONCLUSIONES: la miopatía congénita de cores centrales es la patología neuromuscular congénita más frecuente. Se relaciona con la presencia de mutaciones en el gen RYR1 (90% de los pacientes). Pertenece a la familia de los canales liberadores de calcio iónico, cuyo papel es fundamental en el fenómeno de acoplamiento excitación-contracción muscular. Su diagnóstico clásico era la biopsia muscular. Está asociado a complicaciones como hipertermia maligna o rabdomiolisis

INTRODUCTION: persistently elevated serum creatine kinase levels may lean the first manifestation of an underlying neuromuscular disease. Its appropriate approach allows an adequate early treatment, a genetic counselling and information concerning complications and prognosis. CASE DESCRIPTION: our patient was an asymptomatic 7-year-old boy with persistent serum CK elevation. He had a normal physical examination. After a normal metabolic study, a specific genetic study for dystrophinopaties or other myopathies was requested. A variant of uncertain significance mutation [RYR1, c.9912C>A; p. (Cys3304*)] associated with central core disease (#MIM11700) was obtained. Before this genetic diagnosis the invasive testing was rejected. DISCUSSION: central core disease is the most frequent congenital neuromuscular disease. About 90% of cases are linked to RYR1 gene mutations. RYR1 protein is a part of macromolecular complex deputed to excitation-contraction coupling through Ca2+ channels. Its diagnosis is confirmed by histological examination. CCD is associated to malignant hyperthermia and rabdomiolisis susceptibility

Rasmussen's encephalitis and central precocious puberty. Neuroendocrinological characterization of three cases.

PURPOSE: Rasmussen's encephalitis (RE) is a chronic neurological disorder characterized by inflammation of the cerebral cortex, mainly unilateral, that leads to drug-resistant epilepsy and progressive neurological impairment. Central Precocious Puberty (CPP) is uncommon, albeit increased in frequency in patients with neurological conditions and the physiopathological bases of these associations remains unclear in most cases. Epilepsy has been proposed to play a role, as well as the accumulation of substances produced as a result of metabolism or tissue degeneration in some neurodegenerative diseases. However, CPP has not been previously described in patients with RE. METHODS: From a series of patients affected by RE followed-up at a referral center, an in-depth review of the characteristics of those who developed CCP was carried out. RESULTS: Three cases were identified, representing a relative frequency of 21.4 % for CPP. They were girls, of Caucasian ethnicity, without family history of CPP or any image-identified abnormalities in the hypothalamic area. In two cases CPP manifested immediately before the onset of the epilepsy (prior to the diagnosis of RE) and in the other, after epilepsy onset but coinciding with a worsening of the seizures. A GnRH test with pubertal response confirmed CPP in the three cases. CONCLUSION: The high proportion of CPP in patients affected by RE suggested a plausible relationship between these two entities. Various factors involved, including neuroinflammation, are hypothesized in the present study. However, further studies are needed to elucidate the pathophysiological bases, which could provide insight in the understanding of both entities.

Bone health impairment in patients with cerebral palsy.

Bone health problems may be related to the nutritional deficit in pediatric patients with cerebral palsy. It is common to find asymptomatic vertebral fractures when they have low bone mineral density. Fat mass deficit could be related to a lower bone mineral density and a higher risk of vertebral fractures. OBJECTIVES: To study the bone health of patients with CP and its relationship with neurological and nutritional status. PURPOSE: Cerebral palsy (CP) is the most common cause of motor disability in pediatric age. METHODS: Cross-sectional, observational, descriptive, and analytical study in which patients with CP between 4 and 5 years with Gross Motor Function Classification System (GMFCS) grades III-IV-V were included. It was carried out: survey, anthropometric study, bioimpedanciometry (BIA), and bone densitometry. Patients with low bone mineral density (BMD Z score less than - 2.0) underwent lumbar radiography looking for vertebral fractures to be diagnosed with osteoporosis. RESULTS: Total sample: 51 patients (51.0% women). Mean age: 11.0 ± 0.5 years. BMD Z score average: - 2.1 (95% CI - 2.5, - 1.7). BMD Z score according to GMFCS: grade III - 1.6 (- 2.2; - 1.), grade IV - 1.6 (- 2.4; - 0.9), grade V - 3.1 (- 3.9, - 2.2) (p = 0.013). Bone health classification according to the International Society for Clinical Densitometry was: 47.1% normal, 52.9% low BMD. Relationship between low BMD and low fat mass (p = 0.030) and low cell mass (p = 0.040) was found. Prevalence of vertebral fractures in lumbar radiography: 25.9%, increasing as the degree of neurological involvement. Vertebral fractures were found in 5/13 GMFCS grade V, 2/6 GMFCS grade IV, and 0/10 GMFCS grade III. CONCLUSIONS: Bone health in the pediatric population with CP is compromised in relation to the degree of neurological involvement and nutritional status. Those patients with moderate-severe cerebral palsy and low BMD seem to present an increased risk of fracture.

Síndrome de duplicación MECP2 familiar / Familial MECP2 duplication síndrome

No disponible

Situación nutricional en una población con parálisis cerebral moderada-grave: más allá del peso / Nutritional status of a population with moderate-severe cerebral palsy: Beyond the weight

INTRODUCCIÓN: La parálisis cerebral (PC) es la causa más frecuente de discapacidad motora en la edad pediátrica. El objetivo es estudiar la situación nutricional de los pacientes con PC controlados en una unidad de referencia, así como la relación entre la afectación neurológica y la nutricional. MATERIAL Y MÉTODOS: Estudio transversal, observacional, descriptivo y analítico en el que se han incluido pacientes con PC con grados III-IV-V (GMFCS) procedentes del área de influencia de un hospital pediátrico de referencia, con edades de 4-15años. Se ha realizado: encuesta (con recogida de datos generales, medicaciones y hábitos nutricionales), estudio antropométrico y bioimpedanciometría (BIA). RESULTADOS: El estudio incluyó 69 pacientes (reclutamiento 84,15%). Edad media 10,46 ± 0,43 años, el 50,7% mujeres. Distribución según GMFCS: grado III (36,2%), grado IV (29%), grado V (34,8%). Según el peso para la talla: desnutrición moderada el 21,8% (grado V: 33,3%), desnutrición grave el 5,8% (grado V: 12,6%), sobrepeso/obesidad el 23,2% (grado III: 24%; grado IV: 35%). Nivel adecuado de masa magra para su talla: grado III (36%), grado IV (55%), grado V (16,7%). Exceso de grasa: grado III (36%), grado IV (40%), grado V (29,2%). Comparación de masa grasa: BIA 6,89 ± 0,64kg versus antropometría 5,56 ± 4,43 kg. CONCLUSIONES: En PC grado GMFCS V es frecuente el déficit de peso asociado a disminución de masa magra para su talla. Los pacientes con PC grados GMFCS III-IV presentan una prevalencia llamativa de sobrepeso/obesidad. La antropometría es una herramienta útil para la valoración nutricional en niños con PC, aunque los niveles de grasa tienden a infravalorarse

INTRODUCTION: Cerebral palsy (CP) is the most frequent cause of motor disability in the paediatric age. The aim of this article is the study of the nutritional status of patients with CP followed-up in a reference hospital, as well as the relationship between neurological and nutritional state. MATERIAL AND METHODS: A cross-sectional, observational, descriptive and analytical study was conducted on a sample consisting of 4-15 years old patients with CP with Gross Motor Function Classification System (GMFCS) grades III-IV-V, from a specialised paediatric hospital reference area. An interview (collection of general data, medications and nutritional habits), anthropometric study and bioimpedance (BIA) measurements were carried out. RESULTS: The study included 69 patients (recruitment 84.15%), with a mean age of 10.46 ± 0.43 years, and 50.7% females. The distribution according to GMFCS scale was: grade III (36.2%), gradeIV (29%), and grade V (34.8%). According to weight for height: moderate malnutrition 21.8% (grade V: 33.3%), severe malnutrition 5.8% (gradeV: 12.6%), overweight/obesity 23.2% (grade III: 24%, gradeIV: 35%). Adequate level of lean mass for height: gradeIII (36%), grade IV (55%), and gradeV (16.7%). Fat excess: gradeIII (36%), grade IV (40%), and gradeV (29.2%). Fat mass comparison: BIA 6.89 ± 0.64kg versus anthropometry 5.56 ± 4.43kg. CONCLUSIONS: In CP grade GMFCSV, the weight deficit associated with a decrease in lean body mass is common. Patients with CP grades GMFCSIII-IV have a significant prevalence of overweight/obesity. Anthropometry is a useful tool for nutritional assessment in children with CP, although fat levels could be underestimated

[Nutritional status of a population with moderate-severe cerebral palsy: Beyond the weight]. / Situación nutricional en una población con parálisis cerebral moderada-grave: más allá del peso.

INTRODUCTION: Cerebral palsy (CP) is the most frequent cause of motor disability in the paediatric age. The aim of this article is the study of the nutritional status of patients with CP followed-up in a reference hospital, as well as the relationship between neurological and nutritional state. MATERIAL AND METHODS: A cross-sectional, observational, descriptive and analytical study was conducted on a sample consisting of 4-15years old patients with CP with Gross Motor Function Classification System (GMFCS) gradesIII-IV-V, from a specialised paediatric hospital reference area. An interview (collection of general data, medications and nutritional habits), anthropometric study and bioimpedance (BIA) measurements were carried out. RESULTS: The study included 69 patients (recruitment 84.15%), with a mean age of 10.46±0.43years, and 50.7% females. The distribution according to GMFCS scale was: gradeIII (36.2%), gradeIV (29%), and gradeV (34.8%). According to weight for height: moderate malnutrition 21.8% (gradeV: 33.3%), severe malnutrition 5.8% (gradeV: 12.6%), overweight/obesity 23.2% (gradeIII: 24%, gradeIV: 35%). Adequate level of lean mass for height: gradeIII (36%), gradeIV (55%), and gradeV (16.7%). Fat excess: gradeIII (36%), gradeIV (40%), and gradeV (29.2%). Fat mass comparison: BIA 6.89±0.64kg versus anthropometry 5.56±4.43kg. CONCLUSIONS: In CP grade GMFCSV, the weight deficit associated with a decrease in lean body mass is common. Patients with CP grades GMFCSIII-IV have a significant prevalence of overweight/obesity. Anthropometry is a useful tool for nutritional assessment in children with CP, although fat levels could be underestimated.

Cirugía conservadora de cáncer de mama y radioterapia intraoperatoria. ¿Podemos predecir la fibrosis? / Breast-conserving surgery in breast cancer and intraoperative radiotherapy. Can we predict the fibrosis?

Introducción: Las técnicas de radioterapia asociadas a la cirugía conservadora del cáncer de mama precoz han evolucionado gracias a un mayor conocimiento de la radiobiología tumoral, destacando entre ellas la radioterapia intraoperatoria (RIO). Sin embargo, se han documentado complicaciones con dicha técnica, principalmente la fibrosis. El factor de crecimiento transformante beta (TGF-β) es una citocina relacionada con la fibrosis inducida después de la radiación que podría servir como marcador temprano del riesgo de desarrollo de la misma. Métodos: Estudio prospectivo multicéntrico de 60 pacientes a las que se les ha sometido a cirugía conservadora por cáncer de mama, asociada a RIO en 30 de ellas. Se evalúan los valores de TGF-β en muestras de suero preoperatorio y a las 24 h desde la cirugía, y de muestras de drenaje a las 6 y 24 h desde la cirugía. Resultados: Los valores de TGF-β objetivados en el suero y en el débito de drenaje a las 24 h desde la cirugía de las pacientes que recibieron RIO fueron significativamente mayores que los de aquellas que no la recibieron (p < 0,0001). De entre ellas, 8 pacientes presentaron valores superiores a 1.000 pg/ml. Estas diferencias entre los grupos no se modifican por el tipo de muestra utilizada, bien sea suero, bien débito de drenaje (p = 0,5881). Conclusiones: Aunque deben realizarse más estudios, valores elevados de TGF-β en las pacientes con cáncer de mama a las que se les realiza cirugía conservadora asociada a RIO pueden predecir el riesgo de fibrosis

Introduction: Radiotherapy techniques associated with breast-conserving surgery have evolved in early breast cancer thanks to a better knowledge of tumor radiobiology, highlighting intraoperative radiotherapy (IORT). However, complications have been documented with this procedure, mainly fibrosis. Transforming growth factor beta (TGF-β) is a cytokine with an active role in radiation-induced fibrosis, which could be used as an early biomarker for the development of fibrosis. Methods: Multicentric prospective analysis of 60 patients with breast cancer who underwent breast-conserving surgery, 30 of whom had received additional IORT. TGF-β values were evaluated in serum pre-surgery and in serum collected 24 h after surgery. In addition, we evaluated surgical wound fluids collected 6 h and 24 h following surgery. Results: Serum and surgical wound fluids TGF-β values collected over 24 h following surgery were significantly higher in patients who received additional IORT (P < .0001). Notably, 8 of these patients showed values above 1,000 pg/ml. There were no differences between the samples (serum or surgical wound fluids) (P = .5881). Conclusions: Although further investigation is needed, higher TGF-β values in IORT during breast-conserving surgery can be used as an early biomarker for the development of fibrosis

Breast-conserving surgery in breast cancer and intraoperative radiotherapy. Can we predict the fibrosis? / Cirugía conservadora de cáncer de mama y radioterapia intraoperatoria. ¿Podemos predecir la fibrosis?

INTRODUCTION: Radiotherapy techniques associated with breast-conserving surgery have evolved in early breast cancer thanks to a better knowledge of tumor radiobiology, highlighting intraoperative radiotherapy (IORT). However, complications have been documented with this procedure, mainly fibrosis. Transforming growth factor beta (TGF-ß) is a cytokine with an active role in radiation-induced fibrosis, which could be used as an early biomarker for the development of fibrosis. METHODS: Multicentric prospective analysis of 60 patients with breast cancer who underwent breast-conserving surgery, 30 of whom had received additional IORT. TGF-ß values were evaluated in serum pre-surgery and in serum collected 24h after surgery. In addition, we evaluated surgical wound fluids collected 6h and 24h following surgery. RESULTS: Serum and surgical wound fluids TGF-ß values collected over 24h following surgery were significantly higher in patients who received additional IORT (P<.0001). Notably, 8 of these patients showed values above 1,000pg/ml. There were no differences between the samples (serum or surgical wound fluids) (P=.5881). CONCLUSIONS: Although further investigation is needed, higher TGF-ß values in IORT during breast-conserving surgery can be used as an early biomarker for the development of fibrosis.

Consenso SEO-SEFH sobre recomendaciones de utilización y elaboración de preparaciones oftálmicas / Consensus SEO-SEFH of recommendations for use and compounding of ophthalmic preparations

Son muchos los medicamentos que, aun habiendo demostrado eficacia y seguridad en diferentes indicaciones oftalmológicas, no están autorizados ni disponibles comercialmente en una forma adecuada para esta vía de administración. Esto implica, por un lado, que se deban utilizar según la legislación que regula la disponibilidad de medicamentos en situaciones especiales y, por otro, que se deban preparar en los Servicios de Farmacia para su administración por vía oftálmica, conforme a unos criterios de calidad que aseguren su efectividad, estabilidad y esterilidad. Este documento recoge un consenso entre la Sociedad Española de Oftalmología y la Sociedad Española de Farmacia Hospitalaria sobre aquellas preparaciones con suficiente evidencia respecto a su eficacia y seguridad para su uso no autorizado en indicaciones y vía de administración oftálmicas. Se incluyen recomendaciones para su utilización de acuerdo con la legislación vigente. Además, con el ánimo de armonizar la preparación de inyecciones intraoculares en los Servicios de Farmacia Hospitalaria, se establecen unas recomendaciones generales para su elaboración siguiendo los estándares establecidos en la Guía de Buenas Prácticas de Preparación de Medicamentos en los Servicios de Farmacia Hospitalaria. En estas recomendaciones se incluyen apartados como el lugar de preparación, el material, la técnica, el envasado, el periodo de validez, el control de calidad, la prescripción y la trazabilidad de las preparaciones intraoculares (AU)

There are many medicinal products that, although having shown efficacy and safety in different ophthalmological indications, they are not authorized or commercially available for ophthalmic administration. This implies, on one hand, that they must be used according to legislation that regulates the availability of medicines in special situations and, on the other hand, that they must be prepared in the pharmacy services for ophthalmic administration, according to quality criteria to ensure its effectiveness, stability and sterility. This document gathers the consensus between the Spanish Society of Ophthalmology and the Spanish Society of Hospital Pharmacy about these selected preparations which have shown enough evidence in their efficacy and safety for their ophthalmic use (off label) and ophthalmic administration. This document includes recommendations about its use according to the current legislation. In addition, with the aim of harmonizing the preparation of intraocular injections in the hospital pharmacy services, general recommendations are set in this document to ensure the compliance with standards established in the Spanish Guideline for Good Preparation Practices of Medicinal Products in Hospital Pharmacies. These recommendations include sections such as the area of preparation, material, technique, packaging, stability, quality control, prescription and traceability of intraocular preparations (AU)

Consensus SEO-SEFH of recommendations for use and compounding of ophthalmic preparations.

There are many medicinal products that, although having shown efficacy and  safety in different ophthalmological indications, they are not authorized or  commercially available for ophthalmic administration. This implies, on one hand,  that they must be used according to legislation that regulates the availability of  medicines in special situations and, on the other hand, that they must be  prepared in the pharmacy services for ophthalmic administration, according to  quality criteria to ensure its effectiveness, stability and sterility. This document  gathers the consensus between the Spanish Society of Ophthalmology and the  Spanish Society of Hospital Pharmacy about these selected preparations which  have shown enough evidence in their efficacy and safety for their ophthalmic use (off label) and ophthalmic administration. This document includes  recommendations about its use according to the current legislation. In addition,  with the aim of harmonizing the preparation of intraocular injections in the  hospital pharmacy services, general recommendations are set in this document  to ensure the compliance with standards established in the Spanish Guideline for Good Preparation Practices of Medicinal Products in Hospital Pharmacies. These  recommendations include sections such as the area of preparation, material,  technique, packaging, stability, quality control, prescription and traceability of  intraocular preparations.

Son muchos los medicamentos que, aun habiendo demostrado eficacia y seguridad en diferentes indicaciones oftalmológicas, no están autorizados ni disponibles comercialmente en una forma adecuada para esta vía de  administración.Esto implica, por un lado, que se deban utilizar según la legislación que regula la disponibilidad de medicamentos en situaciones especiales y, por otro, que se  deban preparar en los Servicios de Farmacia para su administración por vía  oftálmica, conforme a unos criterios de calidad que aseguren su efectividad,  estabilidad y esterilidad. Este documento recoge un consenso entre la Sociedad  Española de Oftalmología y la Sociedad Española de Farmacia Hospitalaria sobre  aquellas preparaciones con suficiente evidencia respecto a su eficacia y  seguridad para su uso no autorizado en indicaciones y vía de administración  oftálmicas. Se incluyen recomendaciones para su utilización de acuerdo con la  legislación vigente. Además, con el ánimo de armonizar la preparación de  inyecciones intraoculares en los Servicios de Farmacia Hospitalaria, se  establecen unas recomendaciones generales para su elaboración siguiendo los  estándares establecidos en la Guía de Buenas Prácticas de Preparación de  Medicamentos en los Servicios de Farmacia Hospitalaria. En estas  recomendaciones se incluyen apartados como el lugar de preparación, el  material, la técnica, el envasado, el periodo de validez, el control de calidad, la  prescripción y la trazabilidad de las preparaciones intraoculares.

Estudio de la demanda asistencial de las enfermedades metabólico-hereditarias en un hospital español de tercer nivel / A study of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital

Objetivo. Conocer las características de la demanda asistencial de las enfermedades metabólico-hereditarias en un hospital español de tercer nivel. Pacientes y métodos. Estudio descriptivo retrospectivo en el que se revisan los datos epidemiológicos, los motivos de consulta, los diagnósticos y los estudios complementarios de los pacientes atendidos por la unidad de enfermedades metabólicas durante un período de 6 años y 11 meses. Resultados. Se valoraron un total de 1.012 pacientes. Hay un predominio de varones (52%) y de pacientes menores de 1 año (42,09%). El 71,44% son menores de 6 años. Los pacientes provienen en un 50,3% del ámbito hospitalario (planta, consultas externas, neonatología, urgencias, neuropediatría y cuidados intensivos), seguido del programa de cribado neonatal (20,36%) y de atención primaria (14,82%). Conclusiones. El estudio de la demanda asistencial de las enfermedades metabólico-hereditarias es útil para detectar necesidades en su campo y tratar de adecuar la asistencia a éstas. Los avances médicos, científicos y sociales hacen necesaria la existencia del experto en metabolismo en unidades clínicas de referencia, integrado en equipos multidisciplinares con otros especialistas, para una adecuada sospecha, diagnóstico, manejo y seguimiento. Debe estar en continua actualización y garantizar la adecuada formación de nuevos expertos en metabolismo, la mejor vía para una óptima atención de los pacientes afectados de enfermedades metabólicas, habitualmente enfermedades raras (AU)

Aim. To determine the characteristics of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital. Patients and methods. We conducted a retrospective descriptive study involving a review of the epidemiological data, reasons for visiting, diagnoses and complementary studies of the patients treated by a metabolic disease unit over a period of 6 years and 11 months. Results. Altogether 1012 patients were evaluated. There was a predominance of males (52%) and of patients under the age of 1 year (42.09%). 71.44% of them were under 6 years old. Approximately half of the patients (50.3%) came from hospitals (wards, outpatients, neonatology, emergency department, neuropaediatrics and intensive care), followed by the neonatal screening programme (20.36%) and primary care (14.82%). The most frequent reasons for visiting and diagnoses can be seen in their respective tables. Conclusions. The study of the demand for health care in hereditary-metabolic diseases is useful as a means to detect needs in their field and to try to adapt care to meet them. Medical, scientific and social progress makes it necessary to have an expert in metabolism present in reference clinical units. As members of multidisciplinary teams alongside other specialists, they will contribute towards accomplishing a suitable presumptive diagnosis, diagnosis, management and follow-up. It is necessary to keep them constantly up-to-date and ensure adequate training of new experts in metabolism, since this is the best way to deliver optimal care for those with metabolic illnesses, which are usually rare diseases (AU)

Hipertensión intracraneal idiopática: experiencia en 25 años y protocolo de actuación / Idiopathic intracranial hypertension: Experience over 25 years and a management protocol

Introducción y objetivos: Se presenta nuestra experiencia en hipertensión intracraneal idiopática (HII) preimplantación y postimplantación de un protocolo específico de actuación. Material y métodos: Estudio descriptivo retrospectivo de los pacientes con diagnóstico de HII en 25 años (1990-2015), comparando los últimos 7 años (tras implantar protocolo) con los 18 previos. Resultados: De 18.865 pacientes valorados en 25 años, hay 54 casos de HII (29 lactantes y 25 niños mayores). Se comparan ambos periodos: 32 casos de 1990-2008 -publicados en An Pediatr (Barc). 2009;71:400-6- y 23 de 2008-2015. En el periodo posprotocolo, hubo 13 pacientes entre 3 y 10 meses (62% varones) con abombamiento transitorio de fontanela y 10 entre 2 y 14 años (50% varones) con papiledema. El 54% de los lactantes habían finalizado recientemente tratamiento corticoideo por bronquitis. En los mayores, un caso asoció trombosis de senos venosos por otomastoiditis, otro tratamiento corticoideo por angioma y otro tratamiento con hormona de crecimiento. Se hizo ecografía transfontanelar a todos los lactantes; TAC, RM y angioRM a todos los mayores, y punción lumbar a 2 lactantes (por sospecha de meningitis) y a todos los mayores. Todos los pacientes evolucionaron favorablemente; solo en 3 se instauró tratamiento. Una paciente recidivó. Discusión: Las características y la evolución de los pacientes son superponibles en todos los años. La HII suele tener un curso favorable, aunque puede tardar en resolverse en niños mayores y presentar graves repercusiones visuales, por lo que precisa estrecho control oftalmológico. Destacamos la utilidad del protocolo para facilitar la toma de decisiones diagnósticas, de seguimiento y tratamiento (AU)

Introduction: We present our experience on idiopathic intracranial hypertension (IIH), before and after the introduction of a specific diagnosis and management protocol. Method: A descriptive retrospective study was conducted on patients with IIH over a 25 year period (1990-2015), comparing the last 7 years (after introduction of the protocol) with the previous 18 years. Results: Among the 18,865 patients evaluated, there were 54 cases of IIH (29 infants and 25 children). A comparison was made between the two time periods: 32 cases in 1990-2008 -published in An Pediatr (Barc). 2009;71:400-6-, and 23 cases in 2008-2015. In post-protocol period, there were 13 patients aged between 3-10 months (62% males) with transient bulging fontanelle, and 10 aged between 2-14 years (50% males), with papilloedema. A total of 54% of infants had recently finished corticosteroid treatment for bronchitis. In the older children, there was one case associated with venous thrombosis caused by otomastoiditis, one case on corticosteroid treatment for angioma, and another case treated with growth hormone. Transfontanelle ultrasound was performed on all infants, and CT, MRI and angio-MRI was performed on every child. Lumbar puncture was performed on 2 infants in whom meningitis was suspected, and in all children. All patients progressed favourably, with treatment being started in 3 of them. One patient relapsed. Discussion: Characteristics and outcomes of patients overlap every year. IIH usually has a favourable outcome, although it may be longer in children than in infants. It can cause serious visual disturbances, so close ophthalmological control is necessary. The protocol is useful to ease diagnostic decisions, monitoring, and treatment (AU)

Estudio de las epilepsias según la edad de inicio, controladas durante 3 años en una unidad de neuropediatría de referencia regional / A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit

OBJETIVO: Estudio de las epilepsias según la edad de inicio de las crisis y la etiología, de los pacientes controlados en una unidad de neuropediatría durante 3 años. PACIENTES Y MÉTODOS: Estudio de cohortes históricas. Revisión de historias de niños con epilepsia de la base de datos de neuropediatría controlados del 1 de enero de 2008 al 31 de diciembre de 2010. RESULTADOS: De 4.595 ni˜nos atendidos en el periodo, se estableció el diagnóstico de epilepsia en 605 (13,17%), siendo 277 (45,79%) epilepsias sintomáticas, 156 (25,79%) idiopáticas y 172 (28,43%) criptogénicas. La epilepsia de ausencias y la epilepsia benigna de la infancia con paroxismos centrotemporales son los síndromes epilépticos idiopáticos con mayor prevalencia, y las encefalopatías prenatales las epilepsias sintomáticas más prevalentes. El 26,12% iniciaron su epilepsia el primer a˜no, siendo sintomáticas el 67,72%. Se han considerado refractarias el 25,29% de las epilepsias; el 42,46% asocia déficit cognitivo, el 26,45% afectación motora y el 9,92% trastorno del espectro autista, siendo más frecuentes a menor edad de inicio. CONCLUSIONES: La ausencia de una clasificación universalmente aceptada de los síndromes epilépticos dificulta trabajos como este, empezando por la terminología. Una clasificación útil es la etiológica, con 2 grupos: un gran grupo con las etiologías establecidas o síndromes genéticos muy probables, y otro de casos sin causa establecida. La edad de inicio de la epilepsia en cada grupo etiológico añade orientación pronóstica. El pronóstico de la epilepsia lo ensombrecen la refractariedad y las alteraciones asociadas del neurodesarrollo, siendo peor en general a más precoz inicio y en etiologías concretas

OBJECTIVE: A study of epilepsy, according to the age at onset of the crisis and its causes, monitored by a Paediatric Neurology Unit over a period of three years. PATIENTS AND METHODS: Historical cohorts study was conducted by reviewing the Paediatric Neurology medical records data base of epileptic children followed-up from 1 January 2008 to 31 December 2010. RESULTS: A total of 4,595 children were attended during the study period. The diagnosis of epilepsy was established in 605 (13.17%): 277 (45.79%) symptomatic, 156 (25.79%) idiopathic, and 172 (28.43%) with cryptogenic epilepsy. Absence epilepsy and benign childhood epilepsy with centro-temporal spikes are the idiopathic epileptic syndromes most prevalent, and the most prevalent symptomatic epilepsies are prenatal encephalopathies. More than one-quarter (26.12%) of epilepsies began in the first year of life, and 67.72% were symptomatic. Refractory epilepsy was observed in 25.29%, 42.46% with cognitive impairment, 26.45% with motor involvement, and 9.92% with an autism spectrum disorder, being more frequent at an earlier age of onset. CONCLUSIONS: The absence of a universally accepted classification of epileptic syndromes makes tasks like this difficult, starting with the terminology. A useful classification would be aetiological, with two groups: a large group with established aetiology, or very likely genetic syndromes, and another with no established cause. The age of onset of epilepsy in each aetiological group helps in the prognosis, which is worsened by refractoriness and associated neurodevelopmental disorders, and are generally worse at an earlier onset and in certain aetiologies

[Idiopathic intracranial hypertension: Experience over 25 years and a management protocol]. / Hipertensión intracraneal idiopática: experiencia en 25 años y protocolo de actuación.

INTRODUCTION: We present our experience on idiopathic intracranial hypertension (IIH), before and after the introduction of a specific diagnosis and management protocol. METHOD: A descriptive retrospective study was conducted on patients with IIH over a 25year period (1990-2015), comparing the last 7years (after introduction of the protocol) with the previous 18years. RESULTS: Among the 18,865 patients evaluated, there were 54 cases of IIH (29 infants and 25 children). A comparison was made between the two time periods: 32 cases in 1990-2008 -published in An Pediatr (Barc). 2009;71:400-6-, and 23 cases in 2008-2015. In post-protocol period, there were 13 patients aged between 3-10months (62% males) with transient bulging fontanelle, and 10 aged between 2-14years (50% males), with papilloedema. A total of 54% of infants had recently finished corticosteroid treatment for bronchitis. In the older children, there was one case associated with venous thrombosis caused by otomastoiditis, one case on corticosteroid treatment for angioma, and another case treated with growth hormone. Transfontanelle ultrasound was performed on all infants, and CT, MRI and angio-MRI was performed on every child. Lumbar puncture was performed on 2 infants in whom meningitis was suspected, and in all children. All patients progressed favourably, with treatment being started in 3 of them. One patient relapsed. DISCUSSION: Characteristics and outcomes of patients overlap every year. IIH usually has a favourable outcome, although it may be longer in children than in infants. It can cause serious visual disturbances, so close ophthalmological control is necessary. The protocol is useful to ease diagnostic decisions, monitoring, and treatment.

[A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit]. / Estudio de las epilepsias según la edad de inicio, controladas durante 3 años en una unidad de neuropediatría de referencia regional.

OBJECTIVE: A study of epilepsy, according to the age at onset of the crisis and its causes, monitored by a Paediatric Neurology Unit over a period of three years. PATIENTS AND METHODS: Historical cohorts study was conducted by reviewing the Paediatric Neurology medical records data base of epileptic children followed-up from 1 January 2008 to 31 December 2010. RESULTS: A total of 4,595 children were attended during the study period. The diagnosis of epilepsy was established in 605 (13.17%): 277 (45.79%) symptomatic, 156 (25.79%) idiopathic, and 172 (28.43%) with cryptogenic epilepsy. Absence epilepsy and benign childhood epilepsy with centro-temporal spikes are the idiopathic epileptic syndromes most prevalent, and the most prevalent symptomatic epilepsies are prenatal encephalopathies. More than one-quarter (26.12%) of epilepsies began in the first year of life, and 67.72% were symptomatic. Refractory epilepsy was observed in 25.29%, 42.46% with cognitive impairment, 26.45% with motor involvement, and 9.92% with an autism spectrum disorder, being more frequent at an earlier age of onset. CONCLUSIONS: The absence of a universally accepted classification of epileptic syndromes makes tasks like this difficult, starting with the terminology. A useful classification would be aetiological, with two groups: a large group with established aetiology, or very likely genetic syndromes, and another with no established cause. The age of onset of epilepsy in each aetiological group helps in the prognosis, which is worsened by refractoriness and associated neurodevelopmental disorders, and are generally worse at an earlier onset and in certain aetiologies.